Schmidt M L, Joshi S, DeChristopher P J, Mihalov M, Sosler S D
University of Illinois College of Medicine, Department of Pediatrics, Chicago 60612-7234, USA.
Br J Haematol. 1998 Sep;102(5):1182-6. doi: 10.1046/j.1365-2141.1998.00892.x.
This first known case of concurrent congenital dyserythropoietic anaemia (CDA) and autoimmune haemolytic anaemia (AIHA) which occurred in a hispanic male and spanned 6 years from the age of 2. Light and electron microscopy of bone marrow erythroblasts and immunophenotyping confirmed CDA; serum/eluate warm autoantibodies and positive direct antiglobulin tests (DAT) associated with severe, episodic anaemias established AIHA. Cytogenetic analysis of bone marrow cells and peripheral blood lymphocytes ascertained sex chromosome aneuploidy (48 XY,+ Y,+ Y). Recurrent, life-threatening episodes of transfusion-dependent anaemia refractory to steroids and intravenous immune globulin, were put into stable remission at age 8 years when splenectomy successfully managed both disorders.
这是首例已知的先天性红细胞生成异常性贫血（CDA）与自身免疫性溶血性贫血（AIHA）并发的病例，患者为一名西班牙裔男性，从2岁起患病长达6年。对骨髓幼红细胞进行光镜和电镜检查以及免疫表型分析确诊为CDA；血清/洗脱液中的温抗体以及与严重发作性贫血相关的阳性直接抗球蛋白试验（DAT）确诊为AIHA。对骨髓细胞和外周血淋巴细胞进行细胞遗传学分析确定存在性染色体非整倍体（48 XY，+Y，+Y）。患者反复出现依赖输血的贫血发作，危及生命，对类固醇和静脉注射免疫球蛋白治疗无效，8岁时行脾切除术成功控制了两种病症，病情进入稳定缓解期。
